Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

 Department of Clinical Medicine MMF Publications

Publications

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Nochi Z, Gregersen N. 2014. APPROACHES TO DECIPHERING THE BALANCE BETWEEN SURVIVAL AND DEATH MECHANISMS IN CELLS WITH MITOCHONDRIAL DYSFUNCTION. Poster session presented at Euromit 2014, Tampere, Finland.
Fernandez-Guerra P. 2014. Cellular characterization of human dermal fibroblasts, focus on mitochondria and maple syrup urine disease: PhD dissertation. Master of Public health, Aarhus Universitet. 214 p.
Cornelius N, Corydon TJ, Gregersen N, Olsen RKJ. 2014. Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddu146
Rohde MC, Corydon TJ, Hansen J, Pedersen CB, Schmidt SP, Gregersen N, Banner J. 2014. Characteristics of human infant primary fibroblast cultures from Achilles tendons removed post-mortem. Forensic Science International. 234:149-53. https://doi.org/10.1016/j.forsciint.2013.11.007
Al-Saaidi R, Bross P. 2014. Do lamin A and lamin C have unique roles?. Chromosoma. https://doi.org/10.1007/s00412-014-0484-7
Al-Saaidi RA. 2014. Do lamin A and lamin C have unique roles?. Poster session presented at Gordon Research Conference, West Dover, United States.
Kristensen LS, Søes S, Hansen LL. 2014. ELMO3: a direct driver of cancer metastasis?. Cell Cycle. 13(16):2483-4. https://doi.org/10.4161/15384101.2014.947228
Henriques BJ, Lucas TG, Rodrigues JV, Frederiksen JH, Teixeira MS, Tiranti V, Bross P, Gomes CM. 2014. Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. PLoS One. 9(9):e107157. https://doi.org/10.1371/journal.pone.0107157
Britze A, Birkler RID, Gregersen N, Ovesen T, Palmfeldt J. 2014. Large-scale proteomics differentiates cholesteatoma from surrounding tissues and identifies novel proteins related to the pathogenesis. PLoS One. 9(8):e104103. https://doi.org/10.1371/journal.pone.0104103
Palmfeldt J, Fernandez-Guerra P, Birkler RID. 2014. Mass spectrometry protein quantification in maple syrup urine disease. [Pictures, Video and sound recordings (digital)].
Tonin AM, Amaral AU, Busanello EN, Gasparotto J, Gelain DP, Gregersen N, Wajner M. 2014. Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: A possible role of mPTP opening as a pathomechanism in these disorders?. BBA General Subjects. https://doi.org/10.1016/j.bbadis.2014.06.011
Sahebekhtiari N, Bross P, Gregersen N, Palmfeldt J. 2014. MITOCHONDRIAL PROTEOME CHANGES IN ETHE1- DEFICIENT MICE: INDICATION OF METABOLIC IMBALANCE. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.
Cornelius N, Gregersen N, Tümer Z, Olsen RKJ. 2014. Oxidative stress and mitochondrial defect in neuromuscular disorders: source or symptoms?. In Oxidative Stress: Causes, Role in Diseases and Biological Effects. Nova Publishers.
Stødkilde-Jørgensen L, Palmfeldt J, Nilsson L, Carlsen IG, Wang Y, Nørregaard R, Frøkiær J. 2014. Proteomic identification of early changes in the renal cytoskeleton in obstructive uropathy. American Journal of Physiology: Renal Physiology. 306(12). https://doi.org/10.1152/ajprenal.00244.2013
Edhager AV, Stenbroen V, Nielsen NS, Bross P, Olsen RKJ, Gregersen N, Palmfeldt J. 2014. Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism. 111(3):360-368. https://doi.org/10.1016/j.ymgme.2014.01.007
Fernandez Guerra P, Birkler RID, Palmfeldt J, Bross P. 2014. PROTEOMICS AND CELLULAR OXIDATIVE STRESS STUDIES IN FIBROBLASTS FROM CLASSIC MAPLE SYRUP URINE DISEASE PATIENTS. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.
Fernández-Guerra P, Birkler RID, Merinero B, Ugarte M, Gregersen N, Rodríguez-Pombo P, Bross P, Palmfeldt J. 2014. Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease. Molecular Genetics & Genomic Medicine. 2(5):383-92. https://doi.org/10.1002/mgg3.88
Bie AS, Bross P. 2014. Substrates of the mitochondrial chaperonin Hsp60. Poster session presented at Euromit 2014, Tampere, Finland.
Mortensen MB, Kjolby M, Gunnersen S, Larsen JV, Palmfeldt J, Falk E, Nykjaer A, Bentzon JF. 2014. Targeting sortilin in immune cells reduces proinflammatory cytokines and atherosclerosis. Journal of Clinical Investigation. 124(12):5317-5322. https://doi.org/10.1172/JCI76002
Bie AS, Bross P, Corydon TJ. 2014. THE HSP60 SUBSTRATE SPECTRUM. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.
Al-Saaidi RA, Rasmussen TB, Palmfeldt J, Hansen J, Bross P. 2014. THE MISSENSE MUTATION P.ARG471HIS CAUSES DILATED CARDIOMYOPATHY THROUGH A DOMINANT NEGATIVE EFFECT. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.
Christensen JH, Kvistgaard H, Knudsen JH, Shaikh G, Tolmie J, Cooke S, Pedersen S, Corydon TJ, Gregersen N, Rittig S. 2013. A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early onset neurohypophyseal diabetes insipidus. Clinical Genetics. 83(1):44-52. https://doi.org/10.1111/j.1399-0004.2011.01833.x
Birkegaard C, Christensen JH, Falorni A, Marzotti S, Minarelli V, Gregersen N, Rittig S. 2013. A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred. Pituitary. 16(2):152-157. https://doi.org/10.1007/s11102-012-0392-x
Sibbersen C, Palmfeldt J, Hansen J, Gregersen N, Jørgensen KA, Johannsen M. 2013. Development of a chemical probe for identifying protein targets of α-oxoaldehydes. Chemical Communications. 49(38):4012-4. https://doi.org/10.1039/c3cc41099d
Madsen MG, Nørregaard R, Palmfeldt J, Olsen LH, Frøkiær J, Jørgensen TM. 2013. Epidermal growth factor and monocyte chemotactic peptide-1: Potential biomarkers of urinary tract obstruction in children with hydronephrosis. Journal of Pediatric Urology. 9(6 (Part A)):838–845. https://doi.org/10.1016/j.jpurol.2012.11.011
Tonin AM, Fernandez Guerra P, Cornelius N, Olsen R, Wajner M, Gregersen N. 2013. Evidence that fibroblasts from patients affected by medium-chain acyl-CoA dehydrogenase deficiency (MCADD) are under chronic ocidative stress. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.
Fernandez Guerra P, Palmfeldt J, Merinero B, Bross P, Rodriguez-Pombo P. 2013. Fibroblasts from Maple Syrup Urine Disease (MSUD) classic patients showed mitochondrial oxidative stress and protein damage. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.
Wang Y, Goetzman E, Palmfeldt J, Gregersen N, Vockley J. 2013. Functional and physical mapping of the architecture of mitochondrial energy metabolism. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.
Olsen RKJ, Cornelius N, Gregersen N. 2013. Genetic and cellular modifiers of oxidative stress: What can we learn from fatty acid oxidation defects?. Molecular Genetics and Metabolism. 2010(supplement):s31-s39. https://doi.org/10.1016/j.ymgme.2013.10.007
Rohde MC, Corydon TJ, Hansen J, Pedersen CB, Schmidt SP, Gregersen N, Banner J. 2013. Heat stress and sudden infant death syndrome-Stress gene expression after exposure to moderate heat stress. Forensic Science International. 232(1-3):16-24. https://doi.org/10.1016/j.forsciint.2013.06.003
Olsen R, Cornelius N, Corydon TJ, Gregersen N. 2013. Is there a molecular rationale for treating patients with riboflavinresponsive multiple acyl-CoA dehydrogenation deficiency (RR;: MADD) with CoQ10 in addition to riboflavin. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.
Britze AF, Palmfeldt J, Birkler RID, Gregersen N, Ovesen T. 2013. Large-scale proteom-analyse af Cholesteatom "Nye brikker i puslespillet". Abstract from Årsmøde i Dansk Selskab for Otorhinolaryngologi og Hoved-Halskirurgi, Nyborg, Denmark.
Britze AF, Palmfeldt J, Birkler RID, Gregersen N, Ovesen T. 2013. Large-scale proteomic analysis of cholesteatoma. Abstract from 20th IFOS World Congress, Seoul, Korea, Republic of.
Britze AF, Palmfeldt J, Birkler RID, Gregersen N, Ovesen T. 2013. Large-scale proteomic analysis of cholesteatoma. Abstract from Årsmøde i Dansk Selskab for Otorhinolaryngologi og Hoved-Halskirurgi, Nyborg, Denmark.
Magnoni R, Palmfeldt J, Christensen JH, Sand M, Maltecca F, Corydon TJ, West M, Casari G, Bross P. 2013. Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice. Neurobiology of Disease. 54C:12-23. https://doi.org/10.1016/j.nbd.2013.02.012
Kleinridders A, Lauritzen HPMM, Ussar S, Christensen JH, Mori MA, Bross P, Kahn CR. 2013. Leptin regulation of Hsp60 impacts hypothalamic insulin signaling. Journal of Clinical Investigation. 123(11):4667-80. https://doi.org/10.1172/JCI67615
Mosegaard S, Olpin SE, Sharrard MJ, Manning NJ, Boneh A, Ryan K, Andreasen C, Kjeldsen M, Gregersen N, Olsen R. 2013. Locus heterogeneity in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.
Palmfeldt J, Gregersen N, Bross P. 2013. Mass spectrometry analysis of mutant proteins to study mechanisms of inherited disorders. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.
Cornelius N. 2013. Molecular rational for riboflavin and CoQ10: treatment in multiple acyl-CoA dehydrogenation deficiency . 58 p.
Rasmussen TB, Palmfeldt J, Nissen PH, Magnoni R, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, et al. 2013. Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy. Human Mutation. https://doi.org/10.1002/humu.22289
Povlsen JA, Løfgren B, Dalgas C, Birkler RID, Johannsen M, Støttrup NB, Bøtker HE. 2013. Protection against Myocardial Ischemia-Reperfusion Injury at Onset of Type 2 Diabetes in Zucker Diabetic Fatty Rats Is Associated with Altered Glucose Oxidation. PLoS One. 8(5):e64093. https://doi.org/10.1371/journal.pone.0064093
Rasmussen TB, Hansen J, Nissen PH, Palmfeldt J, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, et al. 2013. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms. Clinical Genetics. 84(1):20-30. https://doi.org/10.1111/cge.12056
Edhager AV, Gregersen N, Palmfeldt J. 2013. Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency (SCADD). Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.
Schmidt MR, Støttrup NB, Contractor H, Hyldebrandt JA, Johannsen M, Pedersen CM, Birkler R, Ashrafian H, Sørensen KE, Kharbanda RK, et al. 2013. Remote ischemic preconditioning with - but not without - metabolic support protects the neonatal porcine heart against ischemia-reperfusion injury. International Journal of Cardiology. https://doi.org/10.1016/j.ijcard.2013.11.020
Cornelius N, Byron C, Hargreaves I, Guerra PF, Furdek AK, Land J, Radford WW, Frerman F, Corydon TJ, Gregersen N, et al. 2013. Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency. Human Molecular Genetics. 22(19):3819-27. https://doi.org/10.1093/hmg/ddt232
Kim J-JP, Gregersen N, Olsen R, Ghisla S. 2013. The acyl-CoA dehydrogenases. In Flavoproteins. de Gruyter. pp. 213-248.
Al-Saaidi R, Rasmussen TB, Palmfeldt J, Nissen PH, Beqqali A, Hansen J, Pinto YM, Boesen T, Bross P, Mogensen J. 2013. The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins. Experimental Cell Research. 319(19):3010–3019. https://doi.org/10.1016/j.yexcr.2013.08.024
Olsen RKJ, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, et al. 2013. The ETFDH c.158A>G Variation Disrupts the Balanced Binding of ESE and ESS Proteins Causing Missplicing and Multiple acyl-CoA Dehydrogenation Deficiency. Human Mutation. https://doi.org/10.1002/humu.22455
Magnoni R, Palmfeldt J, Hansen J, Christensen JH, Corydon TJ, Bross P. 2013. The Hsp60 Folding Machinery Is Crucial For Manganese Superoxide Dismutase Folding And Function. Free Radical Research. https://doi.org/10.3109/10715762.2013.858147
Thomsen HH, Møller HJ, Trolle C, Groth K, Jensen AS, Bojesen A, Høst C, Gravholt CH. 2013. The macrophage low-grade inflammation marker sCD163 is modulated by exogenous sex steroids. Endocrine Connections. 2(4):216-224. https://doi.org/10.1530/EC-13-0067

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Revised 11.09.2025
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Helle Just